The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Prevalence and Factors Associated with Repeat Mental Health Service Utilization During Rwanda's Genocide Commemoration Week. [PDF]
Bamukunde AM +5 more
europepmc +1 more source
Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales +6 more
wiley +1 more source
3-6-24 Anterior Circulation Large Vessel Occlusion-Stroke Screening Rule: A Simple and Feasible Framework. [PDF]
Rangarajan SA +4 more
europepmc +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
Firearm Violence and Health in Policymaker Discourse: Mixed Methods Social Media Analysis. [PDF]
Ashok VA +11 more
europepmc +1 more source
Remembered and Forgotten: The Nineteenth-Century Flemish and Dutch Famine in Cultural Memory. [PDF]
Jensen L.
europepmc +1 more source
Mindfulness in trauma recovery: applications, insights, and future directions. [PDF]
Chopko B +3 more
europepmc +1 more source
G‐CSF for Mobilizing CD34+ Cells in Individuals With SCD: A Word of Caution
American Journal of Hematology, EarlyView.
Akshay Sharma +17 more
wiley +1 more source

